Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Por um escritor misterioso
Descrição
Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the <i>CREBBP</i> gene which is consistent with the clinical diagnosis of RSTS.
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
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Location of the 14 causative CREBBP mutations found in this study
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Rubinstein–Taybi syndrome in diverse populations - Tekendo
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PDF) Novel heterozygous variants in the EP300 gene cause
Analysis of mutations within the intron20 splice donor site of
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